Autoimmunity to the sodium-level sensor in the brain causes essential hypernatremia

Neuron. 2010 May 27;66(4):508-22. doi: 10.1016/j.neuron.2010.04.017.

Abstract

Na(x) is the sodium-level sensor of body fluids in the brain involved in sodium homeostasis. Na(x)-knockout mice do not stop ingesting salt even when dehydrated. Here we report a case with clinical features of essential hypernatremia without demonstrable hypothalamic structural lesions, who was diagnosed as a paraneoplastic neurologic disorder. The patient had autoantibodies directed against Na(x), along with a ganglioneuroma composed of Schwann-like cells robustly expressing Na(x). The removal of the tumor did not reduce the autoantibody levels or relieve the symptoms. Intravenous injection of the immunoglobulin fraction of the patient's serum into mice induced abnormalities in water/salt intake and diuresis, which led to hypernatremia. In the brains of these mice, cell death was observed along with focal deposits of complement C3 and inflammatory infiltrates in circumventricular organs where Na(x) is specifically expressed. Our findings thus provide new insights into the pathogenesis of hypernatremia relevant to the sodium-level-sensing mechanism in humans.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autoantibodies / biosynthesis
  • Autoantibodies / blood
  • Autoantibodies / physiology*
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / metabolism
  • Brain / immunology*
  • Brain / pathology
  • Brain / surgery
  • Child
  • Drinking / immunology
  • Female
  • Humans
  • Hypernatremia / immunology*
  • Hypernatremia / surgery
  • Mice
  • Sodium Channels / immunology*
  • Voltage-Gated Sodium Channels

Substances

  • Autoantibodies
  • Scn7a protein, mouse
  • Sodium Channels
  • Voltage-Gated Sodium Channels